Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

Por Largillière, C., Vianey-Saban, C., Fontaine, M., Bertrand, C., Kacet, N., Farriaux, J. P.
Publicado em 1995

A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

Por Touma, E, Rashed, M, Vianey-Saban, C, Sakr, A, Divry, P, Gregersen, N, Andresen, B
Publicado em 2001

Chronic Diarrhea in l-Amino Acid Decarboxylase (AADC) Deficiency: A Prominent Clinical Finding Among a Series of Ten French Patients

Por Spitz, M. A., Nguyen, M. A., Roche, S., Heron, B., Milh, M., de Lonlay, P., Lion-François, L., Testard, H., Napuri, S., Barth, M., Fournier-Favre, S., Christa, L., Vianey-Saban, C., Corne, C., Roubertie, A.
Publicado no JIMD Rep (2016)

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Por Andresen, B S, Olpin, S, Poorthuis, B J, Scholte, H R, Vianey-Saban, C, Wanders, R, Ijlst, L, Morris, A, Pourfarzam, M, Bartlett, K, Baumgartner, E R, deKlerk, J B, Schroeder, L D, Corydon, T J, Lund, H, Winter, V, Bross, P, Bolund, L, Gregersen, N
Publicado em 1999

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum

Por Sala, P. Ruiz, Ruijter, G., Acquaviva, C., Chabli, A., de Sain-van der Velden, M. G. M., Garcia-Villoria, J., Heiner-Fokkema, M. R., Jeannesson-Thivisol, E., Leckstrom, K., Franzson, L., Lynes, G., Olesen, J., Onkenhout, W., Petrou, P., Drousiotou, A., Ribes, A., Vianey-Saban, C., Merinero, B.
Publicado no JIMD Rep (2016)